P114: Long-term safety and efficacy of pegunigalsidase alfa in patients with Fabry disease: Results from the phase 3 BRILLIANCE Extension Study*

Conclusion:Overall, incorporation of RCEM episignature testing improved diagnostic yield in this cohort 7-fold.These findings suggest that RCEM episignature testing offers meaningful diagnostic value for children with VACTERL/OAVS-like presentations.Findings also highlight the need to combine clinical information with diagnostic testing, as multiple positives did not meet clinical criteria and conversely multiple negative results met clinical criteria.Additionally, our data provides preliminary evidence that some of the broader RCEMs may also be detectable by this signature.Episignature testing may address key gaps in diagnostic yield using only molecular analysis for phenotypes suggestive of RCEMs.